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Alma universitas studiorum parmensis A.D. 962 - Università di ParmaAlma universitas studiorum parmensis A.D. 962 - Università di Parma People and Organization
Università degli Studi di Parma

Antonio Percesepe

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Associate professor
Department of Medicine and Surgery
Clinical and Experimental Medicine Unit
SSD: Medical Genetics (MEDS-01/A)
President of the single-cycle degree course in MEDICINE AND SURGERY

Curriculum Vitae

Date and place of birth; 22.5.1964, Pescara, Italy

Degrees

1982-1988 M.D. School of medicine at the Catholic University of Rome. Degree with 110/110 cum laude
1988-1992 Medical Residency in Gastroenterology and endoscopy at the
Catholic University of Rome (50/50 cum laude)
1994-1998 Ph.D. in Gastrointestinal Oncology, Depts. of Internal Medicine, University of Modena and Medical Genetics, University of Helsinki
2003-2007 Resident in Medical Genetics at the University of Florence (50/50 cum laude)

Professional experience
1988-1994: Resident at the Department of Internal Medicine and Gastroenterology of the Catholic University of Rome, Italy
1995: Resident at the Department of Internal Medicine of the University of Modena, Italy
1996-1997: Molecular biologist at the Dept. of Medical Genetics of the University of Helsinki, Finland
1998-2000 Postdoctoral fellow at the Dept. of Internal Medicine of the University of Modena
2000-2012 Assistant Professor of Medical Genetics at the Dept. of Mother & Child of the University of Modena.

Research
Research activities have been deveolped along the following fields:
1. Clinical and biomolecular studies of hereditary syndromes (current focus)
2. Clinical and biomolecular aspects of Hereditary Nonpolyposis Colorectal Cancer, HNPCC
1. Genetic basis of Hereditary Non Polyposis Colorectal Cancer – HNPCC -)
2. Mismatch repair gene mutations and microsatellite instability
3. Bone dysplasias, with special reference to Leri-Weill Dyscondrosteosis and Langer Syndrome, and their related gene
4. Epidemiology of chromosomal abnormalities, with special reference to their finding in prenatal diagnosis
5. Non invasive techniques of prenatal diagnosis
6. Genotype/phenotype correlations in genomic disorders, with special reference to the copy number variations (CNVs).

Positions

President of the single-cycle degree course in MEDICINE AND SURGERY

Teachings

Research

Publications

  • Expanding the spectrum of Darier Disease variants: 13 novel ATP2A2 genetic variations discovered in an Italian retrospective analysis

    Authors: Stefani C.; De Gemmis P.; Cattelan P.; Tibaudo L.; Stagni C.; De Sensi E.; Ambrosini E.; Percesepe A.; Segat D.; Lonigro I.

    Year: 2026

  • De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

    Authors: Quinodoz M; Rodenburg K; Cvackova Z; Kaminska K; De Bruijn Se; Iglesias-Romero Ab; Boonen Egm; Ullah M; Zomer N; Folcher M; Bijon J; Holtes Lk; Tsang Sh; Corradi Z; Freund Kb; Shliaga S; Panneman Dm; Hitti-Malin Rj; Ali M; Altalbishi A; Andréasson S; Ansari G; Arno G; Astuti Gdn; Ayuso C; Ayyagari R; Banfi S; Banin E; Barakat Ts; Barboni Mts; Bauwens M; Ben-Yosef T; Bernard V; Birch Dg; Biswas P; Blanco-Kelly F; Bocquet B; Boon Cjf; Branham K; Bremond-Gignac D; Britten-Jones Ac; Bujakowska Km; Burin Des Roziers C; Cadena El; Calzetti G; Cancellieri F; Cattaneo L; Chadderton N; Charbel Issa P; Coutinho-Santos L; Daiger Sp; De Baere E; De Bruyne M; De La Cerda B; De Roach Jn; De Zaeytijd J; Derks R; Dhaenens Cm; Dudakova L; Duncan Jl; Farrar Gj; Feltgen N; Fenner Bj; Fernández-Caballero L; Ferraz Sallum Jm; Gana S; Garanto A; Gardner Jc; Gilissen C; Gonzàlez-Duarte R; Goto K; Griffiths-Jones S; Haack Tb; Haer-Wigman L; Hardcastle Aj; Hayashi T; Héon E; Hoefsloot Lh; Hoischen A; Holtan Jp; Hoyng Cb; Ibanez Mbb 4th; Inglehearn Cf; Iwata T; Jensson Bo; Jones K; Kalatzis V; Kamakari S; Karali M; Kellner U; Klaver Ccw; Knézy K; Koenekoop Rk; Kohl S; Kominami T; Kühlewein L; Lamey Tm; Leibu R; Leroy Bp; Liskova P; Lopez I; López-Rodríguez Vrj; Mahieu Q; Mahroo Oa; Manes G; Mansard L; Martín-Gutiérrez Mp; Martins N; Mauring L; Mckibbin M; Mclaren Tl; Meunier I; Michaelides M; Millán Jm; Mizobuchi K; Mukherjee R; Nagy Zz; Neveling K; Ołdak M; Oorsprong M; Pan Y; Papachristou A; Percesepe A; Pfau M; Pierce Ea; Place E; Ramesar R; Ramond F; Rasquin Fa; Rice Gi; Roberts L; Rodríguez-Hidalgo M; Ruiz-Ederra J; Sabir Ah; Sajiki Af; Sánchez-Barbero Ai; Sarma As; Sangermano R; Santos Cm; Scarpato M; Scholl Hpn; Sharon D; Signorini Sg; Simonelli F; Sousa Ab; Stefaniotou M; Stefansson K; Stingl K; Suga A; Sulem P; Sullivan Ls; Szabó V; Szaflik Jp; Taurina G; Thiadens Aahj; Toomes C; Tran Vh; Tsilimbaris Mk; Tsoka P; Vaclavik V; Vajter M; Valeina S; Valente Em; Valentine C; Valero R; Valleix S; Van Aerschot J; Van Den Born Li; Van Heetvelde M; Verhoeven Vjm; Vincent Al; Webster Ar; Whelan L; Wissinger B; Yioti Gg; Yoshitake K; Zenteno Jc; Zeuli R; Zuleger T; Landau C; Jacob Ai; Lin S; Cremers Fpm; Lee W; Ellingford Jm; Stanek D; Roosing S; Rivolta C.

    Year: 2026

  • Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries

    Authors: Taxer K.; Wimmer K.; Wadt K.; Schnaiter S.; Rudnik S.; Zschocke J.; Vetti H. H.; Vaz F.; Van Overeem Hansen T.; Theis P.; Tesner P.; Teixeira M. R.; Bravo M. C. R.; Ripperger T.; Renieri A.; Reis A.; Percesepe A.; Mensenkamp A.; Macek M.; Macchiaiolo M.; Krajc M.; Klink B.; Kahre T.; Hes F. J.; Haanpaa M. K.; Foretova L.; De Putter R.; Brems H.; Van De Beek I.; Bajalica-Lagercrantz S.; Schwaninger G.

    Year: 2026

  • The Hidden Face of Danon Disease: Unique Challenges for Female Patients

    Authors: Torlai Triglia L.; Barocelli F.; Ambrosini E.; Bettella A.; Gurgoglione F. L.; Bianconcini M.; Guidorossi A.; Russo F.; Percesepe A.; Niccoli G.

    Year: 2025

  • Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

    Authors: Giovanella S.; Poyatos-Andujar A. M.; Garcia M. M. A.; Avila-Fernandez A.; Bustamante-Aragones A.; Ayuso C.; Percesepe A.; Martorana D.; Ferri M.; Terracciano A.; Massella L.; Chester J.; Testa F.; Ligabue G.; Ferrarini M.; Gibertoni D.; Alfano G.; Tenedini E.; Artuso L.; Marino M.; Calabrese O.; Tagliafico E.; Magistroni R.

    Year: 2025
Full list of publications

Research projects

  • In-depth genetic study and clinical follow-up in fetuses with I and II trimester unspecific signs of increased risk to predict fetal prognosis and inform parental decision-making.

    Manager: Percesepe Antonio

    Sponsor: Ministero dell'università e della ricerca

    Start date: 28/09/2023 End date: 28/02/2026

Public Engagement Initiatives

  • Presentazione presso il Rotary Club di Piacenza del Corso di Laurea in Medicine and Surgery

    Presentazione su invito al Rotary Club di Piacenza del Corso di Laurea in Medicine and Surgery, dalla sua istituzione (2021) allo sviluppo attuale

    Date: 14/04/2025